ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA355834
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
220272
ClinVar RCV Id:
RCV000218923
RCV000205555
RCV001778794
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Asn504Ser
CA349700
NM_000051.4:c.1511A>G